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Summary Literature (0)
DOID:0050763 - ARC syndrome


Disease Ontology Definition:A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. It has material basis in homozygous or compound heterozygous mutation in the VPS33B gene or has masterial basis in homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.

Synonyms: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, Arthrogryposis-renal dysfunction-cholestasis

In OMIM:
OMIM:208085 - ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1
OMIM:613404 - ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

In Mondo Disease Ontology:
MONDO:0017123 - arthrogryposis-renal dysfunction-cholestasis syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : vps33b, vipas39

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): syndrome (is_a)